Visualization of regulatory element with DNMs in transcripts



Visualization of de novo variants in transcripts


Visualization of original de novo CNV set
   There is no corresponding data published yet, we will update it when such data available.

Transcripts
Transcript ID Transcript exon region Coding exon region
ENST00000539805 [[13246708, 13246829], [13296616, 13296702], [13371041, 13371099], [13398094, 13398168], [13415690, 13415801], [13463873, 13463984], [13604092, 13604161], [13605831, 13605899], [13610580, 13610799], [13619540, 13619575]] [[13415756, 13415801], [13463873, 13463984], [13604092, 13604161], [13605831, 13605899], [13610580, 13610725]]
ENST00000480436 [[13370038, 13371099], [13398094, 13398168], [13415690, 13415801], [13463873, 13463984], [13509092, 13509158], [13514668, 13514788], [13539654, 13539761], [13550153, 13550233], [13561543, 13561628], [13567896, 13568017], [13604092, 13604161], [13605831, 13605899], [13610580, 13610799], [13619540, 13619550]] None
ENST00000337743 [[13370038, 13371099], [13398094, 13398168], [13415690, 13415801], [13463873, 13463984], [13509079, 13509158], [13514668, 13514788], [13539654, 13539761], [13550153, 13550233], [13561543, 13561628], [13567896, 13568017], [13604092, 13604161], [13605831, 13605899], [13610580, 13610799], [13619540, 13619587]] [[13371006, 13371099], [13398094, 13398168], [13415690, 13415801], [13463873, 13463984], [13509079, 13509158], [13514668, 13514788], [13539654, 13539761], [13550153, 13550233], [13561543, 13561628], [13567896, 13568017], [13604092, 13604161], [13605831, 13605899], [13610580, 13610725]]
ENST00000465381 [[13415690, 13415801], [13463873, 13463984], [13509079, 13509158], [13514668, 13514788], [13561543, 13561628], [13567896, 13568017], [13604092, 13604161], [13605831, 13605899], [13610580, 13610799], [13619540, 13619550]] None
ENST00000455532 [[13463873, 13463984], [13509079, 13509158], [13514668, 13514788], [13539654, 13539761], [13550153, 13550233], [13561543, 13561628], [13567896, 13568017], [13605831, 13605899], [13610580, 13610799], [13619540, 13619550]] [[13463873, 13463984], [13509079, 13509158], [13514668, 13514788], [13539654, 13539761], [13550153, 13550233], [13561543, 13561628], [13567896, 13568017], [13605831, 13605899], [13610580, 13610725]]
ENST00000476108 [[13567896, 13568017], [13581189, 13581264], [13597503, 13597770], [13604092, 13604161], [13605831, 13605899], [13610580, 13610799], [13619540, 13619550]] None
ENST00000483898 [[13567896, 13568017], [13597503, 13597770], [13604092, 13604161], [13605831, 13605899], [13610580, 13610799], [13619540, 13619550]] None
ENST00000434275 [[13595313, 13595524], [13604092, 13604161], [13605831, 13605899], [13610580, 13610658]] [[13595407, 13595524], [13604092, 13604161], [13605831, 13605899], [13610580, 13610658]]
ENST00000544472 [[13597250, 13597770], [13604092, 13604161], [13605831, 13605899], [13610580, 13610799], [13619540, 13619564]] [[13597662, 13597770], [13604092, 13604161], [13605831, 13605899], [13610580, 13610725]]
NM_001323603 [[13370035, 13371099], [13398094, 13398168], [13415690, 13415801], [13463873, 13463984], [13509079, 13509158], [13514668, 13514788], [13539654, 13539761], [13550153, 13550233], [13561543, 13561628], [13567896, 13568017], [13597503, 13597770], [13604092, 13604161], [13605831, 13605899], [13610580, 13610799], [13619540, 13619583]] [[13371006, 13371099], [13398094, 13398168], [13415690, 13415801], [13463873, 13463984], [13509079, 13509158], [13514668, 13514788], [13539654, 13539761], [13550153, 13550233], [13561543, 13561628], [13567896, 13567993]]
NR_136631 [[13370035, 13371099], [13398094, 13398168], [13415690, 13415801], [13463873, 13463984], [13509092, 13509158], [13514668, 13514788], [13550153, 13550233], [13561543, 13561628], [13567896, 13568017], [13597503, 13597770], [13604092, 13604161], [13605831, 13605899], [13610580, 13610799], [13619540, 13619583]] None
NR_136630 [[13370035, 13371099], [13398094, 13398168], [13415690, 13415801], [13463873, 13463984], [13509092, 13509158], [13514668, 13514788], [13561543, 13561628], [13567896, 13568017], [13597503, 13597770], [13604092, 13604161], [13605831, 13605899], [13610580, 13610799], [13619540, 13619583]] None
NM_001323604 [[13370035, 13371099], [13398094, 13398168], [13415690, 13415801], [13463873, 13463984], [13509079, 13509158], [13514668, 13514788], [13539654, 13539761], [13550153, 13550233], [13561543, 13561628], [13567896, 13568017], [13581189, 13581264], [13604092, 13604161], [13605831, 13605899], [13610580, 13610799], [13619540, 13619583]] [[13371006, 13371099], [13398094, 13398168], [13415690, 13415801], [13463873, 13463984], [13509079, 13509158], [13514668, 13514788], [13539654, 13539761], [13550153, 13550233], [13561543, 13561628], [13567896, 13567993]]
NM_017714 [[13370035, 13371099], [13398094, 13398168], [13415690, 13415801], [13463873, 13463984], [13509079, 13509158], [13514668, 13514788], [13539654, 13539761], [13550153, 13550233], [13561543, 13561628], [13567896, 13568017], [13604092, 13604161], [13605831, 13605899], [13610580, 13610799], [13619540, 13619583]] [[13371006, 13371099], [13398094, 13398168], [13415690, 13415801], [13463873, 13463984], [13509079, 13509158], [13514668, 13514788], [13539654, 13539761], [13550153, 13550233], [13561543, 13561628], [13567896, 13568017], [13604092, 13604161], [13605831, 13605899], [13610580, 13610725]]
NR_136628 [[13370035, 13371099], [13398094, 13398168], [13415690, 13415801], [13463873, 13463984], [13509092, 13509158], [13514668, 13514788], [13550153, 13550233], [13561543, 13561628], [13567896, 13568017], [13604092, 13604161], [13605831, 13605899], [13610580, 13610799], [13619540, 13619583]] None
NR_136629 [[13370035, 13371099], [13398094, 13398168], [13415690, 13415801], [13463873, 13463984], [13509079, 13509158], [13514668, 13514788], [13561543, 13561628], [13567896, 13568017], [13604092, 13604161], [13605831, 13605899], [13610580, 13610799], [13619540, 13619583]] None
NM_001323602 [[13370035, 13371099], [13398094, 13398168], [13415690, 13415801], [13463873, 13463984], [13509079, 13509158], [13514668, 13514788], [13604092, 13604161], [13605831, 13605899], [13610580, 13610799], [13619540, 13619583]] [[13371006, 13371099], [13398094, 13398168], [13415690, 13415801], [13463873, 13463984], [13509079, 13509158], [13514668, 13514788], [13604092, 13604161], [13605831, 13605899], [13610580, 13610725]]
Promoter
Chrom Start End Description
chr20 13619555 13619585 CAGE_peak_1_at_TASP1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr20 GH20I013735 13735894 13738218 0.2 [{'connected_gene': 'NDUFAF5', 'score': 29.76}, {'connected_gene': 'ESF1', 'score': 11.74}, {'connected_gene': 'GC20M013782', 'score': 0.25}, {'connected_gene': 'TASP1', 'score': 0.15}]
chr20 GH20I013777 13777188 13777600 0.84 [{'connected_gene': 'NDUFAF5', 'score': 9.3}, {'connected_gene': 'ESF1', 'score': 0.44}, {'connected_gene': 'GC20M013782', 'score': 0.44}, {'connected_gene': 'TASP1', 'score': 0.12}]
chr20 GH20I013546 13546601 13546800 0.98 [{'connected_gene': 'TASP1', 'score': 0.16}, {'connected_gene': 'GC20M013443', 'score': 0.15}]
chr20 GH20I013637 13637800 13639856 1.99 [{'connected_gene': 'TASP1', 'score': 571.0}, {'connected_gene': 'GC20M013443', 'score': 0.08}]
chr20 GH20I013491 13491494 13492983 0.85 [{'connected_gene': 'TASP1', 'score': 7.99}, {'connected_gene': 'GC20M013443', 'score': 0.26}]
chr20 GH20I013677 13677220 13681100 0.2 [{'connected_gene': 'TASP1', 'score': 18.13}, {'connected_gene': 'GC20M013782', 'score': 0.15}]
chr20 GH20I013670 13670636 13672406 0.69 [{'connected_gene': 'TASP1', 'score': 8.47}, {'connected_gene': 'GC20M013782', 'score': 0.14}]
chr20 GH20I013628 13627174 13628219 0.2 [{'connected_gene': 'TASP1', 'score': 20.22}, {'connected_gene': 'GC20M013443', 'score': 0.1}]
chr20 GH20I013659 13659434 13659583 0.71 [{'connected_gene': 'TASP1', 'score': 0.34}, {'connected_gene': 'GC20M013782', 'score': 0.13}]
chr20 GH20I013681 13681614 13681743 1.13 [{'connected_gene': 'TASP1', 'score': 0.26}, {'connected_gene': 'GC20M013782', 'score': 0.15}]
chr20 GH20I013626 13626406 13626715 0.2 [{'connected_gene': 'TASP1', 'score': 34.71}, {'connected_gene': 'GC20M013443', 'score': 0.1}]
chr20 GH20I013684 13684134 13685123 0.94 [{'connected_gene': 'TASP1', 'score': 0.25}, {'connected_gene': 'GC20M013782', 'score': 0.15}]
chr20 GH20I013649 13649277 13650303 0.43 [{'connected_gene': 'TASP1', 'score': 9.24}, {'connected_gene': 'GC20M013782', 'score': 0.12}]
chr20 GH20I013674 13674263 13675031 0.2 [{'connected_gene': 'TASP1', 'score': 7.72}, {'connected_gene': 'GC20M013782', 'score': 0.14}]
chr20 GH20I013697 13697490 13697872 0.44 [{'connected_gene': 'TASP1', 'score': 6.7}, {'connected_gene': 'GC20M013782', 'score': 0.17}]
chr20 GH20I013690 13690594 13691574 0.4 [{'connected_gene': 'TASP1', 'score': 0.23}, {'connected_gene': 'GC20M013782', 'score': 0.16}]
chr20 GH20I013661 13661275 13661638 0.31 [{'connected_gene': 'TASP1', 'score': 12.47}, {'connected_gene': 'GC20M013782', 'score': 0.13}]
chr20 GH20I013627 13626874 13627023 0.2 [{'connected_gene': 'TASP1', 'score': 32.49}, {'connected_gene': 'GC20M013443', 'score': 0.1}]
chr20 GH20I013725 13725105 13725376 0.41 [{'connected_gene': 'ESF1', 'score': 0.22}, {'connected_gene': 'GC20M013782', 'score': 0.22}, {'connected_gene': 'TASP1', 'score': 0.17}]
chr20 GH20I013418 13418774 13418923 0.92 [{'connected_gene': 'MRPS36P6', 'score': 0.39}, {'connected_gene': 'GC20M013443', 'score': 0.31}, {'connected_gene': 'TASP1', 'score': 0.07}]
chr20 GH20I013412 13412855 13413370 0.31 [{'connected_gene': 'MRPS36P6', 'score': 0.44}, {'connected_gene': 'GC20M013443', 'score': 0.29}, {'connected_gene': 'TASP1', 'score': 0.07}]
chr20 GH20I013398 13398369 13398498 0.22 [{'connected_gene': 'MRPS36P6', 'score': 0.44}, {'connected_gene': 'GAPDHP2', 'score': 0.44}, {'connected_gene': 'TASP1', 'score': 0.07}]
chr20 GH20I014332 14332684 14338284 2.14 [{'connected_gene': 'FLRT3', 'score': 550.77}, {'connected_gene': 'GAPDHP2', 'score': 11.93}, {'connected_gene': 'TASP1', 'score': 11.0}, {'connected_gene': 'GC20M014272', 'score': 0.25}, {'connected_gene': 'RN7SL864P', 'score': 0.14}, {'connected_gene': 'MACROD2', 'score': 0.05}]
chr20 GH20I013515 13515808 13516698 0.2 [{'connected_gene': 'GC20M013443', 'score': 0.2}, {'connected_gene': 'TASP1', 'score': 0.13}]
chr20 GH20I013524 13524493 13526202 0.63 [{'connected_gene': 'GC20M013443', 'score': 0.18}, {'connected_gene': 'TASP1', 'score': 0.14}]
chr20 GH20I013493 13493174 13493323 0.2 [{'connected_gene': 'GC20M013443', 'score': 0.25}, {'connected_gene': 'TASP1', 'score': 0.11}]
chr20 GH20I013753 13753727 13754078 0.34 [{'connected_gene': 'GC20M013782', 'score': 0.31}, {'connected_gene': 'ESF1', 'score': 0.29}, {'connected_gene': 'TASP1', 'score': 0.14}]
chr20 GH20I013230 13230609 13232049 0.96 [{'connected_gene': 'ENSG00000225956', 'score': 8.81}, {'connected_gene': 'ISM1-AS1', 'score': 8.29}, {'connected_gene': 'ISM1', 'score': 2.03}, {'connected_gene': 'TASP1', 'score': 1.73}, {'connected_gene': 'LOC105372539', 'score': 0.44}]